ClinVar Miner

List of variants reported as uncertain significance for Dravet syndrome by Invitae

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP
NM_030918.5(SNX27):c.1181A>C (p.Lys394Thr)
NM_030918.5(SNX27):c.118G>A (p.Gly40Ser) rs1354158738
NM_030918.5(SNX27):c.1237A>G (p.Met413Val) rs144336311
NM_030918.5(SNX27):c.1246A>G (p.Asn416Asp)
NM_030918.5(SNX27):c.1258A>T (p.Thr420Ser)
NM_030918.5(SNX27):c.1310G>C (p.Arg437Thr)
NM_030918.5(SNX27):c.1324G>A (p.Val442Ile) rs149937418
NM_030918.5(SNX27):c.1427G>T (p.Arg476Leu) rs200106732
NM_030918.5(SNX27):c.1465G>A (p.Glu489Lys)
NM_030918.5(SNX27):c.1493G>A (p.Arg498Gln)
NM_030918.5(SNX27):c.1517A>G (p.Tyr506Cys) rs1553266278
NM_030918.5(SNX27):c.41C>T (p.Pro14Leu) rs965328686
NM_030918.5(SNX27):c.456A>G (p.Gln152=) rs774725804
NM_030918.5(SNX27):c.575T>A (p.Leu192Gln)
NM_030918.5(SNX27):c.66_71dup (p.Gly25_Ser26insGlyGly) rs567208173
NM_030918.5(SNX27):c.676T>A (p.Ser226Thr) rs748735835
NM_030918.5(SNX27):c.73G>T (p.Gly25Trp)
NM_030918.5(SNX27):c.796G>A (p.Asp266Asn)
NM_030918.5(SNX27):c.848A>G (p.Asp283Gly) rs776237861
NM_030918.5(SNX27):c.857C>T (p.Thr286Met)
NM_030918.5(SNX27):c.883A>G (p.Ser295Gly) rs754578785
NM_030918.5(SNX27):c.913G>A (p.Ala305Thr)
NM_030918.5(SNX27):c.938C>T (p.Thr313Met) rs140922236

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